Canonical Allele Identifier: PA2827021114
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1507258
ClinVar RCV Id: RCV002009401 RCV003303632
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Gln1723His
CA055156
NM_001318832.2:c.5169G>C
CA394315644
NM_001318832.2:c.5169G>T